Rare multisystem ciliopathy disorders
Gene: NODAL
NODAL (nodal growth differentiation factor)
EnsemblGeneIds (GRCh38): ENSG00000156574
EnsemblGeneIds (GRCh37): ENSG00000156574
OMIM: 601265, Gene2Phenotype
NODAL is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000156574
EnsemblGeneIds (GRCh37): ENSG00000156574
OMIM: 601265, Gene2Phenotype
NODAL is in 12 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: heterotaxy is not included on this panelCreated: 23 Jan 2017, 4:43 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Expert list
- OMIM
- 601265
- Clinvar variants
- Variants in NODAL
- Penetrance
- Complete
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Familial Neural Tube Defects
- Laterality disorders and isomerism
- Familial non syndromic congenital heart disease
- DDG2P
- Fetal anomalies
- Skeletal dysplasia
- Pituitary hormone deficiency
- Thoracic dystrophies
- Primary ciliary disorders
- Holoprosencephaly - NOT chromosomal
History Filter Activity
26 Jan 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
23 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Nov 2016, Gel status: 1
Upload gene information
Ellen McDonagh (Genomics England Curator)NODAL was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
5 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)NODAL was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
5 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NODAL was created by ellenmcdonagh